Mutations in the Hypoxanthine Guanine Phosphoribosyltransferase Gene (HPRT1) in Asian HPRT Deficient Families

Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified 34 mutations in 28 Japanese, 7 Korean, and 1 Indian families with the patients manifesting different clinical phenotypes, including two rare cases...

Full description

Saved in:
Bibliographic Details
Published inNucleosides, nucleotides & nucleic acids Vol. 23; no. 8-9; pp. 1169 - 1172
Main Authors Yamada, Y., Yamada, K., Sonta, S., Wakamatsu, N., Ogasawara, N.
Format Journal Article
LanguageEnglish
Published United States Taylor & Francis Group 01.10.2004
Subjects
Deficiency
Exons
Family Health
Female
HPRT
Humans
Hypoxanthine Phosphoribosyltransferase - deficiency
Hypoxanthine Phosphoribosyltransferase - genetics
India
Japan
Kelley-Seegmillar syndrome
Korea
Lesch-Nyhan syndrome
Lesch-Nyhan Syndrome - genetics
Male
Mutation
Mutations
Phenotype
Polymerase Chain Reaction
RNA, Messenger - metabolism
Sequence Analysis, DNA
Syndrome
Japan
India
Korea
Online AccessGet full text
ISSN1525-7770
1532-2335
DOI10.1081/NCN-200027439

Cover

More Information
Summary:Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified 34 mutations in 28 Japanese, 7 Korean, and 1 Indian families with the patients manifesting different clinical phenotypes, including two rare cases in female subjects, by the analysis of all nine exons of HPRT from the genomic DNA and reverse transcribed mRNA using PCR technique coupled with direct sequencing.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1525-7770
1532-2335
DOI:10.1081/NCN-200027439